Revel Score:
ENST00000276833
0.044
ENST00000301305 (MANE Select)
0.044
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03236082 (MID)
Genomes Max Group AF
0.00091885 (AMR)
Exomes Max Group AF
0.03303484 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144416027G>A , CM000670.2:g.144416027G>A | GRCh38 |
| NC_000008.10:g.145641411G>A , CM000670.1:g.145641411G>A | GRCh37 |
| NC_000008.9:g.145612219G>A | NCBI36 |
| NG_012234.2:g.5864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.257C>T MANE Select | ENSP00000301305.4:p.Pro86Leu | |
| ENST00000276833.9:c.182C>T | ENSP00000276833.5:p.Pro61Leu | |
| ENST00000301305.7:c.257C>T | ENSP00000301305.3:p.Pro86Leu | |
| ENST00000526658.1:c.192+571C>T | ENSP00000434512.1:n.192+571C>T | |
| NM_017767.2:c.182C>T | NP_060237.2:p.Pro61Leu | |
| NM_130849.3:c.257C>T | NP_570901.2:p.Pro86Leu | |
| XM_006716599.1:c.257C>T | XP_006716662.1:p.Pro86Leu | |
| XM_011517153.1:c.192+571C>T | XP_011515455.1:n.192+571C>T | |
| XM_024447188.1:c.192+571C>T | XP_024302956.1:n.192+571C>T | |
| XM_024447189.1:c.192+571C>T | XP_024302957.1:n.192+571C>T | |
| NM_001374839.1:c.192+571C>T | NP_001361768.1:n.192+571C>T | |
| NM_017767.3:c.182C>T | NP_060237.3:p.Pro61Leu | |
| NM_130849.4:c.257C>T MANE Select | NP_570901.3:p.Pro86Leu |